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Chondroectodermal dysplasia with night blindness

MedGen UID:
798265
Concept ID:
CN203917
Finding
Synonym: chondroectodermal dysplasia with night blindness
 
Monarch Initiative: MONDO:0017869
Orphanet: ORPHA319195

Definition

Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVChondroectodermal dysplasia with night blindness
Follow this link to review classifications for Chondroectodermal dysplasia with night blindness in Orphanet.

Recent clinical studies

Etiology

Khan B, Basit S, Touseef M, Tariq M, Khan MN, Ahmad W
Eur J Med Genet 2012 Aug-Sep;55(8-9):455-60. Epub 2012 Apr 22 doi: 10.1016/j.ejmg.2012.04.004. PMID: 22579605

Diagnosis

Romano F, Albertini GC, Arrigo A, Leone PP, Bandello F, Battaglia Parodi M
Eur J Ophthalmol 2020 Mar;30(2):NP38-NP40. Epub 2019 Apr 16 doi: 10.1177/1120672119841778. PMID: 30991842

Clinical prediction guides

Khan B, Basit S, Touseef M, Tariq M, Khan MN, Ahmad W
Eur J Med Genet 2012 Aug-Sep;55(8-9):455-60. Epub 2012 Apr 22 doi: 10.1016/j.ejmg.2012.04.004. PMID: 22579605

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